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 DEAFNESS--OPTIC ATROPHY SYNDROME(OMIM機械翻訳
 DENTIN DYSPLASIA, TYPE I(OMIM機械翻訳
 DENTIN DYSPLASIA, TYPE II(OMIM機械翻訳
 DENTINOGENESIS IMPERFECTA 1; DGI1(OMIM機械翻訳
 DERMAL RIDGES, NELSON SYNDROME(OMIM機械翻訳
 DERMATOPATHIA PIGMENTOSA RETICULARIS; DPR(OMIM機械翻訳
 MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS(OMIM機械翻訳
 DUANE RETRACTION SYNDROME 1; DURS1(OMIM機械翻訳
 DUPUYTREN CONTRACTURE(OMIM機械翻訳
 KENNY-CAFFEY SYNDROME, TYPE 2(OMIM機械翻訳
 LERI-WEILL DYSCHONDROSTEOSIS; LWD(OMIM機械翻訳
 DYSCHROMATOSIS SYMMETRICA HEREDITARIA; DSH(OMIM機械翻訳
 DYSPLASIA EPIPHYSEALIS HEMIMELICA WITH CHONDROMAS AND OSTEOCHONDROMAS(OMIM機械翻訳
 DYSTONIA, PROGRESSIVE, WITH DIURNAL VARIATION(OMIM機械翻訳
 ECTOPIA PUPILLAE(OMIM機械翻訳
 EHLERS-DANLOS SYNDROME, TYPE III(OMIM機械翻訳
 EHLERS-DANLOS SYNDROME, TYPE IV, AUTOSOMAL DOMINANT; EDS4(OMIM機械翻訳
 BECKWITH-WIEDEMANN SYNDROME; BWS(OMIM機械翻訳
 ENCEPHALOPATHY, RECURRENT, OF CHILDHOOD(OMIM機械翻訳
 MULTIPLE ENDOCRINE NEOPLASIA, TYPE I; MEN1(OMIM機械翻訳
 CAMURATI-ENGELMANN DISEASE(OMIM機械翻訳
 EPENDYMOMA, FAMILIAL(OMIM機械翻訳
 EPIDERMOLYSIS BULLOSA HERPETIFORMIS, DOWLING-MEARA TYPE(OMIM機械翻訳
 EPIDERMOLYSIS BULLOSA OF HANDS AND FEET(OMIM機械翻訳
 EPIDERMOLYSIS BULLOSA SIMPLEX, KOEBNER TYPE; EBS2(OMIM機械翻訳
 EPIDERMOLYSIS BULLOSA SIMPLEX, OGNA TYPE(OMIM機械翻訳
 EPILEPSY, BENIGN OCCIPITAL; BOE(OMIM機械翻訳
 EPIPHYSEAL DYSPLASIA, MULTIPLE, 1; EDM1(OMIM機械翻訳
 MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA; MSSE(OMIM機械翻訳
 ERYTHROKERATODERMIA WITH ATAXIA(OMIM機械翻訳
 ERYTHROKERATODERMIA VARIABILIS; EKV(OMIM機械翻訳
 FEMORAL-FACIAL SYNDROME; FFS(OMIM機械翻訳
 BIRT-HOGG-DUBE SYNDROME; BHD(OMIM機械翻訳
 FIBROMATOSIS, GINGIVAL, WITH ABNORMAL FINGERS, FINGERNAILS, NOSE AND EARS, AND SPLENOMEGALY(OMIM機械翻訳
 FIBROMATOSIS, GINGIVAL, WITH PROGRESSIVE DEAFNESS(OMIM機械翻訳
 FIBULA AND ULNA, DUPLICATION OF, WITH ABSENCE OF TIBIA AND RADIUS(OMIM機械翻訳
 FIFTH DIGIT SYNDROME(OMIM機械翻訳
 FLOATING-HARBOR SYNDROME(OMIM機械翻訳
 FOCAL FACIAL DERMAL DYSPLASIA(OMIM機械翻訳
 FOVEAL HYPOPLASIA AND PRESENILE CATARACT SYNDROME(OMIM機械翻訳
 4-@AMINOBUTYRATE AMINOTRANSFERASE; ABAT(OMIM機械翻訳
 GASTRIC LYMPHOMA, PRIMARY(OMIM機械翻訳
 GASTROCUTANEOUS SYNDROME(OMIM機械翻訳
 GASTRITIS, FAMILIAL GIANT HYPERTROPHIC(OMIM機械翻訳
 GENU VALGUM, ST. HELENA FAMILIAL(OMIM機械翻訳
 GEOGRAPHIC TONGUE AND FISSURED TONGUE(OMIM機械翻訳
 GERSTMANN-STRAUSSLER DISEASE; GSD(OMIM機械翻訳
 GIANT PIGMENTED HAIRY NEVUS; GPHN(OMIM機械翻訳
 GOITER, MULTINODULAR, CYSTIC RENAL DISEASE AND DIGITAL ANOMALIES(OMIM機械翻訳
 GRANT SYNDROME(OMIM機械翻訳
 GRAY PLATELET SYNDROME; GPS(OMIM機械翻訳
 HAIRY EARS(OMIM機械翻訳
 HAIRY ELBOWS(OMIM機械翻訳
 HAIRY NOSE TIP(OMIM機械翻訳
 HAIRY PALMS AND SOLES(OMIM機械翻訳
 HASHIMOTO STRUMA(OMIM機械翻訳
 HEMANGIOMAS, CAVERNOUS, OF FACE AND SUPRAUMBILICAL MIDLINE RAPHE(OMIM機械翻訳
 HEMIFACIAL ATROPHY, PROGRESSIVE; HFA(OMIM機械翻訳
 HEMIFACIAL MICROSOMIA WITH RADIAL DEFECTS(OMIM機械翻訳
 HETEROCHROMIA IRIDIS(OMIM機械翻訳
 HIRSUTISM--SKELETAL DYSPLASIA--MENTAL RETARDATION SYNDROME(OMIM機械翻訳
 PERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT(OMIM機械翻訳
 HIDRADENITIS SUPPURATIVA, FAMILIAL(OMIM機械翻訳
 HOLT-ORAM SYNDROME; HOS(OMIM機械翻訳
 HUMEROSPINAL DYSOSTOSIS(OMIM機械翻訳
 HYALOIDEORETINAL DEGENERATION OF WAGNER(OMIM機械翻訳
 GILBERT SYNDROME(OMIM機械翻訳
 HYPERCHOLESTEROLEMIA, FAMILIAL(OMIM機械翻訳
 HYPERLIPOPROTEINEMIA, TYPE IV(OMIM機械翻訳
 HYPEROSTOSIS CORTICALIS GENERALISATA, BENIGN FORM OF WORTH, WITH TORUS PALATINUS(OMIM機械翻訳
 HYPEROSTOSIS FRONTALIS INTERNA(OMIM機械翻訳
 HYPERSENSITIVITY PNEUMONITIS, FAMILIAL(OMIM機械翻訳
 HYPERTELORISM, TEEBI TYPE(OMIM機械翻訳
 MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 1; MHS1(OMIM機械翻訳
 HYPERTRICHOSIS UNIVERSALIS CONGENITA, AMBRAS TYPE; HTC1(OMIM機械翻訳
 HYPOMELIA WITH MULLERIAN DUCT ANOMALIES(OMIM機械翻訳
 HYPOPARATHYROIDISM, FAMILIAL ISOLATED; FIH(OMIM機械翻訳
 HYPOTENSION, ORTHOSTATIC(OMIM機械翻訳
 HYPOTRICHOSIS, MARIE UNNA TYPE(OMIM機械翻訳
 ICHTHYOSIS VULGARIS(OMIM機械翻訳
 ICHTHYOSIS--CHEEK--EYEBROW SYNDROME(OMIM機械翻訳
 ICHTHYOSIS, BULLOUS TYPE(OMIM機械翻訳
 SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR; SMMCI(OMIM機械翻訳
 JOHNSON NEUROECTODERMAL SYNDROME(OMIM機械翻訳
 JACOBSEN SYNDROME; JBS(OMIM機械翻訳
 AASE-SMITH SYNDROME(OMIM機械翻訳
 ISCHIOPATELLAR DYSPLASIA(OMIM機械翻訳
 JOINT LAXITY, FAMILIAL(OMIM機械翻訳
 KALLIKREIN 1; KLK1(OMIM機械翻訳
 KABUKI SYNDROME(OMIM機械翻訳
 KALLMANN SYNDROME 2; KAL2(OMIM機械翻訳
 KAPOSI SARCOMA(OMIM機械翻訳
 KBG SYNDROME(OMIM機械翻訳
 KELOIDS(OMIM機械翻訳
 KERATITIS, HEREDITARY(OMIM機械翻訳
 KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL DOMINANT(OMIM機械翻訳
 KERATOCONUS(OMIM機械翻訳
 KERATODERMA, PALMOPLANTAR, WITH DEAFNESS(OMIM機械翻訳
 KERATODERMA, PALMOPLANTAR, WITH NAIL DYSTROPHY AND HEREDITARY MOTOR-SENSORY NEUROPATHY(OMIM機械翻訳
 KERATOLYTIC WINTER ERYTHEMA(OMIM機械翻訳


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